DisGeNET - a database of gene-disease associations

List of associated variants

Congenital adrenal hyperplasia, C0001627

Source: ALL

Results per page

Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs6471	CYP21A2	0.683	0.360	6	32040110	missense variant	G/A;C;T	snv	1.2E-05; 5.3E-03		24
rs9378251	CYP21A2	0.776	0.320	6	32038514	missense variant	C/T	snv	9.2E-05	5.4E-04	8
rs6475	CYP21A2	0.807	0.320	6	32039426	missense variant	T/A	snv	4.8E-04	1.2E-03	7
rs776989258	CYP21A2 ; TNXB	0.807	0.280	6	32041093	missense variant	C/G;T	snv	5.5E-04		6
rs7755898	CYP21A2	0.827	0.240	6	32040421	stop gained	C/T	snv		3.6E-03	5
rs6445	TNXB ; CYP21A2	0.827	0.240	6	32041006	missense variant	C/T	snv	4.6E-03	5.2E-03	5
rs200737258	AR	0.882	0.240	X	67711476	missense variant	G/A	snv	2.1E-03	1.1E-03	4
rs63749090	CYP21A2	0.851	0.280	6	32038468	missense variant	G/A	snv		2.1E-05	4
rs200005406	CYP21A2 ; TNXB	0.851	0.200	6	32041097	missense variant	G/A;C	snv	8.8E-06; 3.3E-04		4
rs104894070	CYP11B1 ; GML	0.882	0.200	8	142879146	missense variant	G/A;T	snv	4.0E-06		3
rs104894071	CYP11B1 ; GML	0.882	0.200	8	142875730	missense variant	G/T	snv			3
rs61758594	CYP11B2	0.882	0.200	8	142917654	missense variant	G/C	snv		7.0E-06	3
rs151344505	CYP21A2	0.882	0.240	6	32040179	missense variant	G/A	snv	1.1E-04	9.8E-05	3
rs759736443	CYP21A2 ; TNXB	0.882	0.240	6	32041096	missense variant	C/T	snv	2.1E-04; 2.7E-05	7.0E-06	3
rs5282	GML ; CYP11B1	0.882	0.200	8	142879627	missense variant	C/G	snv	2.4E-05	1.4E-05	3
rs756607591	HSD3B2	0.882	0.200	1	119415454	missense variant	G/A	snv	4.0E-06	2.2E-04	3
rs1351141519	POMC	0.882	0.200	2	25161718	missense variant	G/C	snv			3
rs121912976	POR	0.882	0.240	7	75985795	missense variant	G/A;C	snv	3.4E-05		3
rs193922538	CYP11B1 ; GML	0.925	0.200	8	142879689	missense variant	G/A	snv	9.9E-05	7.7E-05	2
rs1330554738	CYP21A2	0.925	0.200	6	32040562	missense variant	C/T	snv	4.0E-06	1.4E-05	2
rs72552755	CYP21A2	0.925	0.200	6	32040490	missense variant	C/G;T	snv	5.2E-05		2
rs770059546	CYP21A2	0.925	0.240	6	32040197	missense variant	C/A;G	snv	5.7E-05		2
rs886038207	CYP21A2	0.925	0.200	6	32038580	frameshift variant	TC/-	delins			2
rs1312209092	CYP21A2 ; TNXB	0.925	0.240	6	32041068	missense variant	G/A	snv			2
rs768260761	CYP2B6	0.925	0.200	19	41012795	missense variant	C/A	snv	4.0E-06		2